Abnormal miR-214/A20 expression might play a role in T cell activation in patients with aplastic anemia

Yu, Zhi; Chen, Cunte; Xiao, Yankai; Chen, Xiaohui; Guo, Lixing; Tan, Guangxiao; Huang, Guixuan; Luo, Weifeng; Zhou, Ming; Li, Yumiao; Chen, Lin; Shen, Qi; Zhang, Yuping; Li, Bo

doi:10.1097/bs9.0000000000000053

Cited by 2 publications

(1 citation statement)

References 32 publications

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“…The intracellular ubiquitin editing protein tumor necrosis factor alpha-induced protein 3 (TNFAIP3), also known as A20, negatively regulates the activity of NF-κB in a variety of pathways through tumor necrosis factor and Toll-like receptors [12][13][14]. The TNFAIP3 gene locus is located in chromosome band 6q23, and its deletion frequently occurs in B-cell lymphomas, particularly extranodal marginal zone B cell lymphoma and diffuse large B-cell lymphoma [15][16][17].…”

Section: Introductionmentioning

confidence: 99%

TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma

Chen

Huang

et al. 2021

Cancer Cell Int

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Background T-cell lymphoma (TCL) is highly aggressive and has a poor prognosis; thus, it is worth exploring biomarkers that may predict clinical outcomes and investigate their potential role in developing targeted therapies. In this study, we characterized the mutation pattern of tumor necrosis factor-alpha-inducing protein 3 (TNFAIP3) and its role in the prognosis of TCL patients. Methods Coding sequence (CDS) mutations in TNFAIP3 in TCL patients was explored using exome-sequencing data from 79 patients in our center (Guangdong Provincial People’s Hospital, GDPH) and 544 samples from the Catalogue of Somatic Mutations in Cancer (COSMIC) database. Additionally, non-CDS mutations in TNFAIP3 in 41 TCL patients from our center (JNU) were investigated by polymerase chain reaction (PCR) and Sanger sequencing. Furthermore, non-CDS mutations in TNFAIP3 in 47 TCL patients from Gene Expression Omnibus (GEO) dataset were explored. Results In the COSMIC database, TNFAIP3 mutations in TCL patients were located in the CDS, and the overall mutation frequency was 2.2%. However, TNFAIP3 mutations were not detected in the CDS of any of the samples in our center’s datasets. Interestingly, non-CDS TNFAIP3 mutations were found in 14.6% and 4.3% of TCL patients in the JNU and GSE15842 dataset, respectively. Importantly, there was a clear trend showing that TCL patients with a TNFAIP3 mutation were associated with a longer 5-year restricted mean survival time (RMST) and favorable OS rate compared with those without a TNFAIP3 mutation in the JNU dataset [hazard ratio (HR) = 0.29, 95% confidence interval (CI) 0.07 to 1.31, P = 0.089]. Furthermore, TNFAIP3 mutations significantly correlated with T-cell large granular lymphocytic leukemia (T-LGLL) with a favorable prognosis in the JNU dataset (P = 0.002). Notably, the different mutation patterns of TNFAIP3 when comparing our center and the COSMIC datasets might be due to different ethnic and genetic backgrounds. Conclusions To the best of our knowledge, we for the first time describe that TNFAIP3 mutations in non-CDS regions are associated with favorable OS for TCL patients, which might be a potential biomarker for the prognostic stratification of Chinese TCL patients.

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Section: Introductionmentioning

confidence: 99%

TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma

Chen

Huang

et al. 2021

Cancer Cell Int

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Multidisciplinary approaches to study anaemia with special mention on aplastic anaemia (Review)

Sankar,

Oviya

2024

Int J Mol Med

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Anaemia is a common health problem worldwide that disproportionately affects vulnerable groups, such as children and expectant mothers. It has a variety of underlying causes, some of which are genetic. A comprehensive strategy combining physical examination, laboratory testing (for example, a complete blood count), and molecular tools for accurate identification is required for diagnosis. With nearly 400 varieties of anaemia, accurate diagnosis remains a challenging task. Red blood cell abnormalities are largely caused by genetic factors, which means that a thorough understanding requires interpretation at the molecular level. As a result, precision medicine has become a key paradigm, utilising artificial intelligence (AI) techniques, such as deep learning and machine learning, to improve prognostic evaluation, treatment prediction, and diagnostic accuracy. Furthermore, exploring the immunomodulatory role of vitamin D along with biomarker-based molecular techniques offers promising avenues for insight into anaemia's pathophysiology. The intricacy of aplastic anaemia makes it particularly noteworthy as a topic deserving of concentrated molecular research. Given the complexity of anaemia, an integrated strategy integrating clinical, laboratory, molecular, and AI techniques shows a great deal of promise. Such an approach holds promise for enhancing global anaemia management options in addition to advancing our understanding of the illness.

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Abnormal miR-214/A20 expression might play a role in T cell activation in patients with aplastic anemia

Cited by 2 publications

References 32 publications

TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma

TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma

Multidisciplinary approaches to study anaemia with special mention on aplastic anaemia (Review)

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